Variant report

Variant	rs1706767
Chromosome Location	chr15:45569099-45569100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:45497016..45498030-chr15:45568848..45569649,8	MCF-7	breast:
2	chr15:45418525..45419261-chr15:45568782..45569294,2	K562	blood:
3	chr15:45489521..45491302-chr15:45567648..45569193,2	MCF-7	breast:
4	chr15:45410026..45410941-chr15:45568756..45569289,2	MCF-7	breast:
5	chr15:45454944..45455772-chr15:45568916..45570015,4	MCF-7	breast:

Extended variants
information (count: 113 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs1049518	1.00[CHB][hapmap];0.91[MEX][hapmap]
rs10519018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1060896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145076	1.00[CHB][hapmap];0.95[MEX][hapmap]
rs1145077	1.00[CHB][hapmap];0.95[MEX][hapmap]
rs1145086	1.00[CHB][hapmap]
rs1145089	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1145093	1.00[CHB][hapmap]
rs1153845	0.91[MEX][hapmap]
rs11629807	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11629858	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11629859	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11631021	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632419	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632651	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632724	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632752	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632778	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11636114	0.82[EUR][1000 genomes]
rs11637364	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11637838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11637920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11639349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11639420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11639483	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11854325	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11854365	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11854484	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11855414	0.83[EUR][1000 genomes]
rs12437840	0.83[MEX][hapmap]
rs12437887	0.83[MEX][hapmap]
rs12440038	0.83[MEX][hapmap]
rs12440356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12898652	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12898818	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12899058	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12899942	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12904150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12908581	0.81[EUR][1000 genomes]
rs12908818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12909409	0.83[EUR][1000 genomes]
rs12910009	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12910764	0.83[EUR][1000 genomes]
rs12911111	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12911186	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12913500	0.92[ASN][1000 genomes]
rs12915314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1346267	1.00[CHB][hapmap];0.95[MEX][hapmap]
rs1346268	0.83[MEX][hapmap]
rs1365610	0.83[MEX][hapmap]
rs1554521	0.83[MEX][hapmap]
rs1617984	1.00[CHB][hapmap]
rs1706768	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1706770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1706798	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1706829	1.00[CHD][hapmap]
rs1719231	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1719232	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1719236	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1719250	0.81[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17536527	1.00[CHB][hapmap]
rs1820518	0.83[MEX][hapmap]
rs2002035	0.80[EUR][1000 genomes]
rs2015295	0.81[EUR][1000 genomes]
rs2271438	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413768	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2413771	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413773	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2458225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2461705	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2486274	1.00[CHB][hapmap]
rs2687511	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2899375	0.82[EUR][1000 genomes]
rs35909486	0.86[ASN][1000 genomes]
rs3759899	0.83[MEX][hapmap]
rs3809472	0.83[MEX][hapmap]
rs4395020	0.83[MEX][hapmap]
rs4533219	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4774580	0.83[MEX][hapmap]
rs4775911	0.83[MEX][hapmap]
rs6493143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493144	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6493145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7162022	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7164602	0.83[MEX][hapmap]
rs7165039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7166580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7167146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7171312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8024620	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8037583	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8039138	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8039153	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8039352	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8039354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8039540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8040185	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8041702	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8041874	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8042434	0.81[ASN][1000 genomes]
rs8043055	0.86[ASN][1000 genomes]
rs872192	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs9920290	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9921008	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9921025	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9921035	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs1706767	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs1706767	C15orf63	cis	parietal	SCAN
rs1706767	CTD-2651B20.3	cis	Muscle Skeletal	GTEx
rs1706767	CTD-2651B20.4	cis	Artery Tibial	GTEx
rs1706767	CTD-2651B20.3	cis	Artery Aorta	GTEx
rs1706767	CTD-2651B20.3	cis	Heart Left Ventricle	GTEx
rs1706767	CTD-2651B20.3	cis	lung	GTEx
rs1706767	CTD-2651B20.3	cis	Skin Sun Exposed Lower leg	GTEx
rs1706767	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs1706767	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs1706767	GATM	cis	cerebellum	SCAN
rs1706767	IVD	cis	parietal	SCAN
rs1706767	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx
rs1706767	CTD-2651B20.3	cis	Thyroid	GTEx
rs1706767	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx
rs1706767	SLC28A2	cis	cerebellum	SCAN
rs1706767	GATM	cis	parietal	SCAN
rs1706767	CTD-2651B20.4	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45550200-45570600	Weak transcription	Stomach Mucosa	stomach
2	chr15:45552600-45570600	Weak transcription	Pancreas	Pancrea
3	chr15:45558000-45570400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr15:45560600-45570400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:45560600-45570600	Weak transcription	Fetal Stomach	stomach
6	chr15:45563000-45570400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:45564800-45570400	Weak transcription	Fetal Brain Female	brain
8	chr15:45566000-45570400	Weak transcription	Brain Anterior Caudate	brain
9	chr15:45567200-45570400	Weak transcription	A549	lung
10	chr15:45567800-45570400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:45568800-45569200	Enhancers	Fetal Intestine Large	intestine
12	chr15:45568800-45570400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:45568800-45570400	Enhancers	HepG2	liver
14	chr15:45569000-45569200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:45569000-45569200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:45569000-45569200	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr15:45569000-45569200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:45569000-45569200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:45569000-45569200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr15:45569000-45569200	Enhancers	Brain Cingulate Gyrus	brain
21	chr15:45569000-45569200	Enhancers	Brain Germinal Matrix	brain
22	chr15:45569000-45569200	Enhancers	Brain Hippocampus Middle	brain
23	chr15:45569000-45569200	Enhancers	Brain Substantia Nigra	brain
24	chr15:45569000-45569200	Enhancers	Colon Smooth Muscle	Colon
25	chr15:45569000-45569400	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr15:45569000-45569800	Enhancers	Liver	Liver
27	chr15:45569000-45570400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr15:45569000-45570400	Enhancers	Fetal Intestine Small	intestine
29	chr15:45569000-45570600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr15:45569000-45570600	Enhancers	Brain Angular Gyrus	brain

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